Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Genetic heterogeneity in osteogenesis imperfecta.

D O Sillence, A Senn, D M Danks

    Journal of Medical Genetics
    |April 1, 1979
    PubMed
    Summary

    Osteogenesis imperfecta (OI) presents as at least four distinct genetic syndromes. This study identified varying inheritance patterns and clinical features, including fractures, blue sclerae, and hearing loss, across these OI types.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Maternal occupational exposure to endocrine-disrupting chemicals during pregnancy and semen parameters in adulthood: results of a nationwide cross-sectional study among Swiss conscripts.

    Human reproduction (Oxford, England)·2021
    Same author

    Semen quality of young men in Switzerland: a nationwide cross-sectional population-based study.

    Andrology·2019
    Same author

    CHRODIS criteria applied to the MASK (MACVIA-ARIA Sentinel NetworK) Good Practice in allergic rhinitis: a SUNFRAIL report.

    Clinical and translational allergy·2017
    Same author

    Transfer of innovation on allergic rhinitis and asthma multimorbidity in the elderly (MACVIA-ARIA) - EIP on AHA Twinning Reference Site (GARD research demonstration project).

    Allergy·2017
    Same author

    Building Bridges for Innovation in Ageing: Synergies between Action Groups of the EIP on AHA.

    The journal of nutrition, health & aging·2016
    Same author

    DG Connect Funded Projects on Information and Communication Technologies (ICT) for Old Age People: Beyond Silos, CareWell and SmartCare.

    The journal of nutrition, health & aging·2016

    Area of Science:

    • Genetics
    • Epidemiology
    • Pediatrics

    Background:

    • Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility.
    • Previous classifications of OI have been based on clinical and radiographic features.

    Purpose of the Study:

    • To conduct an epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia.
    • To identify and characterize distinct syndromes within the spectrum of OI.

    Main Methods:

    • Epidemiological data collection.
    • Genetic analysis of patients with OI.
    • Clinical and radiographic assessment of affected individuals.

    Main Results:

    • Identified at least four distinct OI syndromes.
    • Syndrome 1: Autosomal dominant inheritance, osteoporosis, fractures, blue sclerae, presenile deafness.
    • Syndrome 2: Neonatal fractures, broad femora, beaded ribs, likely autosomal recessive, often lethal.
    • Syndrome 3: Fractures at birth, severe progressive deformity, variable scleral blueness, sporadic cases, possibly heterogeneous inheritance.
    • Syndrome 4: Autosomal dominant inheritance, osteoporosis, fractures, variable long bone deformity, normal sclerae.

    Conclusions:

    • Osteogenesis imperfecta comprises a heterogeneous group of disorders with distinct genetic and clinical profiles.
    • Further research is needed to fully elucidate the genetic basis and inheritance patterns of all identified OI syndromes.

    Related Experiment Videos